Haemophilia

Haemophilia A and haemophilia B are both X linked recessive disorders of coagulation. 1/3 of cases have no family history

Haemophilia
  • Incidence 1 in 10 000 
  • Lack of factor VIII

Haemophilia B = Christmas disease 
  • Incidence 1 in 50 000 
  • Lack of factor IX 

Severity of the disease is classified according to the baseline level of clotting factor:
  • Severe <1% normal 
  • Moderate 1-4% normal
  • Mild 5 -50% normal 

Complications include: 
  • Haemarthrosis (70-80%) – commonest joint affected is the knee followed by elbow
  • Bleeds into muscle/soft tissue 
  • Haemophiliac arthropathy 
  • Intracranial haemorrhage 
  • Pseudotumours of bone

Management: 
  • Avoid use of NSAIDs/ASA 
  • Avoid IM injections 
  • Avoid contact sports 
  • Desmopressin
  • Tranexamic acid 
  • Recombinant factor VIII or IX
  • Vaccination against hepatitis A and B


Small print gem: female carriers may have menorrhagia 


References:
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Sarah Hudson

Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas.

Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)